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GeneE
7 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TMTC4
transmembrane O-mannosyltransferase targeting cadherins 4
Chromosome 13 Β· 13q32.3
NCBI Gene: 84899Ensembl: ENSG00000125247.17HGNC: HGNC:25904UniProt: Q5T4D3
28PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein O-linked glycosylation via mannoseendoplasmic reticulumprotein bindingATPase bindinghearing loss, autosomal recessive 122mathematical abilityadolescent idiopathic scoliosisatrial heart septal defect
✦AI Summary

TMTC4 is a transmembrane O-mannosyltransferase that catalyzes the transfer of mannosyl residues to serine and threonine residues on target proteins, primarily cadherins, within the endoplasmic reticulum 1. The protein belongs to the GT-C/PMT sugar transferase superfamily and contains 11 transmembrane domains with conserved catalytic sites for metal ion and dolichyl-phosphate-mannose binding 1. Clinically, TMTC4 loss-of-function is associated with autosomal recessive deafness (DFNB122) through a hair cell-specific mechanism 2. TMTC4-deficient mice exhibit progressive postnatal hearing loss due to overactivation of the unfolded protein response (UPR) and subsequent apoptosis 32. Human TMTC4 variants confer hypersensitivity to UPR-induced apoptosis and segregate with adult-onset progressive hearing loss in affected families 2. Beyond hearing, TMTC4 has emerging roles in other diseases. It serves as a diagnostic biomarker for prostate cancer with 100% sensitivity and 96.6% specificity 4. Conversely, TMTC4 downregulation is associated with improved prognosis in osteosarcoma and may impact cellular proliferation 5. TMTC4 variants also associate with decreased silicosis risk through alternative polyadenylation mechanisms 6, and the gene appears relevant to bone mineral density regulation 7.

Sources cited
1
TMTC4 is an enzymatically active sugar transferase in the GT-C/PMT superfamily with 11 transmembrane domains and catalytic sites for metal ions and dolichyl-phosphate-mannose binding
PMID: 33436046
2
Tmtc4 deletion causes postnatal hearing loss through UPR overactivation and dysregulation of ER calcium dynamics
PMID: 30188326
3
TMTC4 is a hair cell-specific deafness gene associated with autosomal recessive hearing loss (DFNB122); human variants confer UPR hypersensitivity and adult-onset progressive hearing loss
PMID: 37943620
4
TMTC4 is highly expressed in prostate cancer with 100% sensitivity and 96.6% specificity for distinguishing PCa from benign prostatic hyperplasia
PMID: 33925440
5
TMTC4 downregulation is associated with improved survival in osteosarcoma and promotes cell proliferation
PMID: 41401469
6
TMTC4 variants associate with decreased silicosis risk through alternative polyadenylation mechanisms
PMID: 38538875
7
TMTC4 was identified as a candidate gene associated with bone mineral density in transcriptome-wide association studies
PMID: 30993394
Disease Associationsβ“˜21
hearing loss, autosomal recessive 122Open Targets
0.43Moderate
mathematical abilityOpen Targets
0.35Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
atrial heart septal defectOpen Targets
0.31Weak
HypercholesterolemiaOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.26Weak
smoking initiationOpen Targets
0.25Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.24Weak
poisoningOpen Targets
0.23Weak
duodenal ulcerOpen Targets
0.22Weak
diabetic ketoacidosisOpen Targets
0.19Weak
gastric cancerOpen Targets
0.18Weak
urethral syndromeOpen Targets
0.17Weak
disorder of earOpen Targets
0.15Weak
Worster-Drought syndromeOpen Targets
0.11Weak
deafnessOpen Targets
0.11Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.10Weak
hearing loss, autosomal recessiveOpen Targets
0.10Weak
osteosarcomaOpen Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.07Suggestive
Deafness, autosomal recessive, 122UniProt
Pathogenic Variants2
NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)Pathogenic
Hearing loss, autosomal recessive 122
β˜†β˜†β˜†β˜†2024β†’ Residue 183
NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)Pathogenic
Hearing loss, autosomal recessive 122
β˜†β˜†β˜†β˜†2024β†’ Residue 192
View on ClinVar β†—
Related Genes
SERP2Shared pathway50%PARP8Shared pathway33%TMTC2Shared pathway33%FKRPShared pathway33%CRPPAShared pathway33%TMTC1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Liver
36%
Bone Marrow
28%
Heart
21%
Ovary
21%
Lung
15%
Gene Interaction Network
Click a node to explore
TMTC4SERP2PARP8TMTC2FKRPCRPPATMTC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5T4D3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.55–0.85]
RankingsWhere TMTC4 stands among ~20K protein-coding genes
  • #12,469of 20,598
    Most Researched28
  • #4,523of 5,498
    Most Pathogenic Variants2
  • #7,311of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedTMTC4
Sources retrieved7 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss.
PMID: 30188326
J Clin Invest Β· 2018
1.00
2
Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.
PMID: 33436046
Biol Direct Β· 2021
0.86
3
TMTC4 is a hair cell-specific human deafness gene.
PMID: 37943620
JCI Insight Β· 2023
0.71
4
Transmembrane and Tetratricopeptide Repeat Containing 4 Is a Novel Diagnostic Marker for Prostate Cancer with High Specificity and Sensitivity.
PMID: 33925440
Cells Β· 2021
0.57
5
Downregulation of TMTC4 expression is associated with improved prognosis in osteosarcoma.
PMID: 41401469
J Int Med Res Β· 2025
0.43